| Disease ID | Source | Name | Description |
| 618725 | OMIM | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS) | An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, developmental delay of varying severity, impaired motor skills and language delay. Additional clinical features include macrocephaly, obesity, overgrowth, craniofacial dysmorphism, epilepsy, and variable behavioral manifestations including autism and attention deficit hyperactivity disorder. The disease is caused by variants affecting the gene represented in this entry. |